• Case of Fanconi anemia in a child
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Case of Fanconi anemia in a child

SOVREMENNAYA PEDIATRIYA.2018.8(96):65-69; doi 10.15574/SP.2018.96.65

Makieieva N., Odinets Yu., Poddubnaya I.
Kharkiv National Medical University, Ukraine
Communal non-profit enterprise «Municipal Clinical Children's Hospital No.16» of the Kharkiv City Council, Ukraine

Fanconi anemia in a child is a rare disease (its frequency is 1:350,000), due to it thorough differential diagnosis with other forms of aplastic anemia is necessary. The prognosis of Fanconi anemia is unfavorable. Conservative therapy and bone marrow transplantation help in 50% of cases. Allogenic transplantation of hematopoietic stem cells (THSC) is the one and only effective treatment approach.

Aim: to attract the attention of pediatricians to the diagnosis of rare hematological syndromes.

Materials and methods. Description of the clinical case of Fanconi anemia in a child of 5 years old is given. An extended examination of the child and a thorough differential diagnosis with other forms of aplastic anemia has been performed.

Results. Based on the evaluation of history, clinical examination, laboratory and instrumental methods of examination, and differentiation with other forms of aplastic anemia the diagnosis of Fanconi anemia was made.

Conclusions. The diagnosis of Fanconi anemia requires an extended examination of the child and careful differentiation with other forms of aplastic anemia.

Key words: aplastic anemia, Fanconi anemia, children.


1. Alter BP, Hanenberg H., Kinsey S. (2014). Hematologic Abnormalities in Patients with Fanconi Anemia. In: Fanconi Anemia: Guidelines for Diagnosis and Management, 4th ed. Frohnmayer D, Frohnmayer L, Guinan E. Oregon (Eds.), Fanconi Anemia Research Fund, Inc, Eugene: 43–73.

2. Alter BP. (2017). Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Blood. 130(21): 2257–2264. https://doi.org/10.1182/blood-2017-05-781799; PMid:29167174 PMCid:PMC5714231

3. Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillon J, Ramirez MJ, Pujol R, Casado JA, Banos R, Rio P, Knies K, Zuniga S, Benitez J, Bueren JA, Jaspers NG, Scharer OD, de Winter JP, Schindler D, Surralles J. (2013). Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 92: 800–6. https://doi.org/10.1016/j.ajhg.2013.04.002; PMid:23623386 PMCid:PMC3644630

4. Bonfim C, Riberio L, Nichele S, Loth G, Kuwahara C, Koliski A, Bitencourt M, Scherer F, Rodrigues L, Pilonetto D, Pasquini R. (2015). Excellent outcomes for Fanconi anemia patients undergoing hematopoietic stem cell transplantation (HSCT) without radiation: a single center experience on 103 patients. Biol Blood Marrow Transplant. 21: S94a. https://doi.org/10.1016/j.bbmt.2014.11.114; https://doi.org/10.1016/j.bbmt.2014.11.081

5. Chirnomas SD, Kupfer GM. (2013). The inherited bone marrow failure syndromes. Pediatr Clin North Am. 60: 1291. https://doi.org/10.1016/j.pcl.2013.09.007; PMid:24237972 PMCid:PMC3875142

6. Guo Y, Kartawinata M, Li J et al. (2014). Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 124: 2767. https://doi.org/10.1182/blood-2014-08-596445; PMid:25205116 PMCid:PMC4215308

7. Rose SR, Kim MO, Korbee L, Wilson KA, Douglas Ris M, Eyal O, Sherafat-Kazemzadeh R, Bollepalli S, Harris R, Jeng MR, Williams DA, Smith FO. (2014). Oxandrolone for the treatment of bone marrow failure in Fanconi anemia. Pediatr Blood Cancer. 61: 11–9. https://doi.org/10.1002/pbc.24617; PMid:24019220

8. Sawyer SL, Tian L, Kahkonen M, Schwartzentruber J, Kircher M., University of Washington Centre for Mendelian Genomics. FORGE Canada Consortium, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA. (2015). Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov. 5: 135–42. https://doi.org/10.1158/2159-8290.CD-14-1156; PMid:25472942 PMCid:PMC4320660

9. Yoon BG, Kim HN, Han UJ et al. (2014). Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome. Korean J Pediatr. 57(3): 125–34. https://doi.org/10.3345/kjp.2014.57.3.125; PMid:24778694 PMCid:PMC4000758

Article received: Jul 17, 2018. Accepted for publication: Nov 24, 2018.